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Fryns syndrome is a rare disorder in which infants are born with a variety of problems, particularly in breathing muscles, and in changes in the face. Fryns syndrome frequently causes a defect in the diaphragm muscle (which is important for breathing), lungs that are underdeveloped, characteristic facial features, changes in the fingers and toes, and problems with internal organs such as the heart...

Fucosidosis is an inherited disease that results when an enzyme that breaks down fucose, a sugar molecule, is missing or not working correctly. When this enzyme is missing, fucose builds up in a part of cells called lysosomes. Lysosomes are small sacs in cells whose job it is to break down these sugars. Because these sugars accumulate in lysosomes, fucosidosis is classified as a lysosomal storag...

Glucose-6-Phosphate Dehydrogenase (G-6-PD) deficiency is a hereditary enzyme deficiency of the red blood cells that predisposes the individual to developing hemolytic anemia. G-6-PD is an enzyme or protein involved in energy metabolism in red blood cells (RBCs) and is necessary for the prevention of cell damage. The activity of G-6-PD is highest in young RBCs and decreases with cell aging. A defic...

Galactosemia is a rare, hereditary condition in which the body cannot break down galactose, a type of sugar that is produced when lactose from milk is digested. Instead of being broken down, galactose accumulates in the body and causes damage to the liver, eyes, and brain. There are 3 forms of this disease; the most common and severe type involves a deficiency in an enzyme called galactose-1-phosp...

Familial Adenomatous Polyposis (FAP) is a rare genetic disease characterized by multiple intestinal polyps (small growths in the intestine), which have a very high frequency of progression to cancer. Gardner syndrome is a variant of FAP. However, individuals with Gardner syndrome also have osteomas (tumors of the bone) especially located in the jaw bone, skull, and long bones, as well as skin an...

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Full disease list by letter:
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